Objectives: This study aimed to identify and analyse ATP7B variants in Iraqi adults with Wilson disease (WD) by long-read next-generation sequencing. Methods: This cross-sectional study was conducted at the Poisoning Consultation Center at Ghazy Al-Hariri Hospital for Surgical Specialties and the Gastroenterology Consultation Clinic at Baghdad Teaching Hospital, Medical City in Baghdad, Iraq. Unrelated patients with clinical and biochemical features suggestive of WD were recruited between October 2022 and October 2023. DNA was extracted from peripheral blood samples. Variants in the ATP7B gene were identified using long-read next-generation sequencing and then analysed by in-silico tools. Results: A total of 45 patients were recruited in which 59 unique variants were detected; of them, 47 were deleterious, 9 were variants of uncertain significance (VUS) and 3 had a conflicting interpretation of pathogenicity. Those variants were detected in 80 out of 90 alleles of the ATP7B gene. Of the participants, 23 (51.1%) patients had 2 deleterious variants (8 in homozygous and 15 in compound heterozygous state); 12 (26.7%) patients had 1 deleterious variant plus 1 VUS or 1 with conflicting pathogenicity; and 10 (22.2%) patients were carriers of a single disease-causing variant. The most frequent variant, c.4021G>A (p.Gly1341Ser), was detected in 5 alleles, while c.3191A>C (p.Glu1064Ala) was detected in 4 alleles, followed by c.2165dupT (p.Arg723GlufsTer32) and c.3247C>T (p.Leu1083Phe), each detected in 3 alleles. Among the 59 variants, 42 were missense, 9 were frameshift, 6 were stop-gain, 2 were splice-donors and 1 was an in-frame deletion. The variant H1069Q, which is common worldwide, was not detected in this study. Conclusions: The ATP7B mutational spectrum in Iraqi patients with WD is significantly diverse, despite high rates of consanguinity. Evidence was provided for 8 variants to be considered for reclassification as deleterious. The diagnostic criteria for those with high Leipzig scores with only a single deleterious variant remain questionable.
Molecular interactions between 2-isopropenylnaphthalene-methacrylic acid (IPNMA) block copolymer( as a model for water- soluble polymer) and methanol at several temperatures were studied using fluorescence techniques , Fluorescence spectrum for (IPNMA) exhibits two emission bands at around 342 nm and 387 nm corresponding to the monomer and the excimer bands , respectively .The fluorescence spectra of dilute solution of (IPNMA) in methanol were recorded in temperature range of 8- 45?C . Plot of the excimer to monomer intensity ratio Ie/Im versus temperature was obtained, which shows double lines with positive slopes crossing at 25?C , the increasing of slope value above this temperature is s
... Show MoreIntroduction and Aim: Beta-thalassemia is a serious inherited genetic disorder and an increasing health burden globally. Beta -thalassemia is caused by genetic globin abnormalities within the hemoglobin beta (HBB) gene. This study aimed to characterize the HBB gene mutations in beta -thalassemia among southern Iraqi patients. Materials and Methods: The study included 30 beta -thalassemia patients referred to the Thi-Qar Center for Genetic Diseases, Iraq and 15 control samples from a random group of apparently healthy individuals. Genomic DNA was isolated from blood sample collected from each individual. The DNA was amplified for specific regions of the HBB gene and the amplified products sequenced. The sequences generated were analysed for
... Show MoreTotal no. of patient (100) stool samples were collected, during the period from February to the end of May of 2008, for children under two years old suffering from non-bloody and bloody diarrhea at (Children Welfare Teaching Hospital) in Baghdad. The study evaluates the relationship between etiological agent of diarrhea and sex, age group, type of feeding, presence of blood in stool of the patients. All samples were examined microscopically to identify parasitic agent and serological test for Rotavirus to identify viral infection, also biochemical and serological tested for specimen's culture on different culture media and antibiotic sensitivity test. Results show from 100 cases 64] represents the etiological agent of diarrhea and
... Show MoreBackground: Age progression is regarded as a critical risk factor in morbidity and mortality because of a weakened immune system. Although various studies have dealt with electrolyte imbalance in COVID-19 patients, the outcomes of these studies were partially understood. Objective: The current study aims to determine some biochemical parameters in old Iraqi COVID-19 patients and highlight the outcomes according to the aging role in the development of COVID-19 by suggesting new mechanisms. Materials and methods: forty COVID-19 patients were enrolled in the current study and divided into two groups: Gm includes (20) men, and Gf includes (20) women. The parameters (Na+, K+, Cl-, LDH, and Hb ) were determined in sera of patients and c
... Show MoreBackground: Cell adhesion molecules are protein entities that are located on the cell surface. The vascular cell adhesion molecule-1 (VCAM-1) and intercellular adhesion molecule-1 (ICAM-1) expression is related to type 2 diabetes mellitus (T2DM) with dyslipidemia. Objectives: To determine the levels of VCAM-1 and ICAM-1 in T2DM patients with dyslipidemia and to explore the relationship between VCAM-1 and ICAM-1 and the development of dyslipidemia in T2DM patients. Patients and methods: The study included 150 individuals with an age range of (35-55) years. Patients with diabetes for more than 5 years were excluded. Fifty healthy individuals constituted Group 1 (G1), fifty patients with T2DM constituted Group 2 (G2), and fifty T2DM p
... Show MorePapillary thyroid carcinoma (PTC) represents the most prevalent kind of thyroid gland cancer, making up around 80% of all occurrences of thyroid cancer. Evidence shows that Syndecan-1 (SDC-1) expression is lost in a number of benign and malignant epithelial neoplasms, although its expression profile in thyroid gland neoplasms is yet unknown. Therefore, the aim of this study was to assess SDC-1 expression in papillary thyroid carcinoma patients, as well as the relationship between age and gender and SDC-1 expression. To undertake a detailed investigation of SDC-1 in normal and malignant tissues, tissue sections were used to examine SDC-1 expression in 70 tissue samples, 50 distinct PTC (6 males and 44 females) and 20 normal tissue ty
... Show MoreIntroduction: With the advent of era of targeted cancer therapy, the serious side effects of chemoradiotherapy have been minimised. Considering the success story of anti-HER2/neu drugs in breast cancer oncology, the present study was conducted. The study evaluates the immunohistochemical expression of HER2/neu in endometrioid cancer among Iraqi patients. Aim: To assess the immunohistochemical expression of HER2/neu in endometrioid carcinoma of uterus and to find the relationship of this expression with FIGO stage and grade and with patient age. Materials and Methods: In this cross sectional study, formalin-fixed, paraffin-embedded tissue blocks of 62 hysterectomy specimens that were diagnosed as endometrioid carcinoma in the teaching labora
... Show MoreObjectives: to assess the normal range of different lip parameters with gender difference and its role in esthetic procedures for Iraqi people. Methods: direct lip measurements were performed with closed lip position using a digital vernier caliper in 132 young Iraqi subjects (89 female and 43 male). Results: Lip measurements showed sexual dimorphism with higher value in men than women in six parameters. Cutaneous height of the upper lip was higher in both sexes. The mustache area in males was longer in males compared to females. Also, it was noticed that upper lip vertical thickness had a higher value, especially in subjects with cosmetic procedures. In addition to that, vertical upper lip thickness showed a higher rise in values
... Show MoreInsulin-induced hyperglycemia is the hallmark of diabetes mellitus (DM), including various metabolic disorders. Diabetic people are more likely to develop dyslipidemia, hypertension, and obesity. Type 2 diabetes (T2DM), the most common illness, is generally asymptomatic in its early stages and can go misdiagnosed for years. Diabetes screening may be beneficial in some cases since early identification and treatment can lessen the burden of diabetes and its consequences. This study aimed to find the relationship between Glycated hemoglobin (HbA1c) and lipid profile components in T2DM patients. This descriptive-analytical and cross-sectional study was performed on the control group and T2DM patients in Medical City in Ba
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